ALS disease; Causes, features

**ALS disease or amyotrophic lateral sclerosis** is one of the rare diseases that you may not have heard of, but its deep impact on people's lives is undeniable. This disease, which is often known as "Lou Gehring's disease", is a progressive neurological disorder that gradually weakens the body's muscles and causes a person to face serious challenges. Maybe you haven't thought about how a disease can take away simple abilities like moving hands, legs or even talking. In this article from Dr. Kihani Fard's website, we are going to discuss in a simple and clear way the causes of occurrence, its characteristics and treatment methods of this **motor neuron disease**. Stay with us. Amyotrophic Lateral Sclerosis (ALS) is a progressive neurological disorder that affects the motor neurons of the brain and spinal cord. Over time, this disease causes muscle weakness and paralysis. Unfortunately, there is no definitive treatment for ALS and the existing treatment methods are mostly focused on reducing symptoms and improving the quality of life of patients. In this regard, Dr. Majid Kihanifard, a neurologist, offers several services to help diagnose and manage neurological diseases, including Le Gehring's disease. Among these services is the nerve and muscle tape test (EMG), which examines the electrical activity of muscles and nerves and can play an effective role in the diagnosis of ALS. Also, they provide EEG services to assess brain damage. ### Causes and characteristics of ALS disease The cause of ALS is still not fully understood, but research suggests that a combination of genetic and environmental factors play a role in its occurrence. #### Genetic factors: - - - **Familial ALS:** It accounts for about 10% of ALS cases and is often linked to mutations in genes such as C9orf72 and SOD1. - ** Sporadic ALS: ** In these cases, spontaneous genetic mutations are seen without hereditary connection. #### Environmental factors: - - - **Smoking:** is considered as a potential risk factor, especially in postmenopausal women. - Exposure to toxins: Heavy metals, pesticides and chemicals can increase the risk of developing amyotrophic lateral sclerosis. ### Symptoms and Features Le Gehring's disease is characterized by a combination of upper and lower motor neuron degeneration, leading to a wide range of symptoms, including: - **Muscle weakness and atrophy:** This is an initial symptom that often starts from the limbs and gradually affects other parts of the body. - **Spasticity and increased reflexes:** Due to upper motor neuron involvement, patients may experience muscle stiffness and exaggerated reflexes. - **fasciculation and muscle cramps:** These are common due to lower motor neuron degeneration and cause contraction and cramps in muscles. - **Speech and swallowing problems:** Bulbar-onset **ALS disease** affects speech and swallowing early, while limb-onset may lead to these problems later. - **Emotional disability:** Uncontrollable laughing or crying can occur due to pseudobulbar effect. The following table summarizes the symptoms of ALS: ### Diagnostic challenges and new ALS diagnosis methods **Diagnosis of ALS** is associated with many problems and complications. One of the main reasons for these challenges is the similarity of ALS symptoms to other neurological diseases, which makes the diagnosis process difficult. Symptoms of ALS, such as muscle weakness, muscle cramps, and swallowing and speech problems, are also seen in other diseases, such as MS, Parkinson's disease, or muscular dystrophy, which complicates the diagnosis process. So far, there is no single, accurate test for the **direct diagnosis of ALS**, forcing specialists to use a combination of methods and assessments to make the diagnosis. Additionally, in the early stages, the symptoms of ALS may be mild and easily overlooked, which can lead to delays in diagnosis and treatment. New methods of diagnosis of amyotrophic lateral sclerosis include: 1. **Electromyography (EMG):** This method examines the electrical activity of muscles and helps identify motor neuron dysfunctions. 2. **Magnetic Resonance Imaging (MRI):** This tool is used to examine motor neuron damage and rule out other brain and spinal diseases. Also, stroke and Alzheimer's disease can be seen through CT scan. 3. **Cerebral Doppler ultrasound:** An advanced method to examine blood flow in the brain and related vessels, which can help identify indirect problems caused by Le Gehring's disease. 4. **Blood and urine tests:** These tests are widely used to rule out other diseases that have symptoms similar to **ALS disease**. 5. Imaging of the brain: Advanced imaging techniques can detect structural and functional changes in **motor neurons** in the brain. ### Current treatments for ALS and their progress **Treatment of motor neuron disease or ALS** focuses more on managing symptoms and improving patients' quality of life; Because there is currently no definitive treatment for this disease. This process involves a variety of methods, each designed to alleviate specific problems caused by ALS. For many ALS patients, physical, occupational, and speech therapy can play an important role in maintaining motor and communication abilities. On the other hand, nutritional and respiratory treatments are also very necessary to deal with swallowing and breathing problems. Certain techniques, such as the use of heat or hydrotherapy, can help reduce muscle cramps and spasms. Also, balanced exercises suitable to the patient's condition can help maintain muscle strength and slow down the process of their analysis. Although there is no definitive cure, several drugs have been approved by the US Food and Drug Administration (FDA) to slow the progression of the disease: - **Riluzole:** This drug may slightly increase the life span of patients. - **Edaravone:** The purpose of this drug is to reduce cell damage caused by oxidative stress and may slow down the process of physical breakdown. - **Sodium phenylbutyrate/taurosodiol:** This drug combination has also had positive effects in improving the short-term physical condition of patients. Extensive research is being done to better understand this disease and find effective treatments. Researchers are looking to discover the role of **ALS-related genes**, identify mechanisms that affect motor neurons, and ways to prevent cell death. Progress in these areas can bring more hope to patients and their families. ### The role of new drugs and treatments in improving the condition of ALS patients In recent years, scientific advances in the field of ALS treatment have brought new hopes for patients and their families. These advances include methods based on stem cells and new drugs that may be effective in slowing disease progression and improving patients' quality of life. ### Methods based on stem cells Stem cells, by producing special proteins, can protect motor neurons from destruction and slow down the disease process. This method can help to maintain the movement abilities of patients. Cell therapy is also used to replace neurons damaged by disease. This method helps to slow the **speed** of **progression of ALS** and has the potential to restore neurological function in the future. ### New drugs and new approaches - **NU-9 drug**: This experimental drug, which is in the preclinical stages, has shown promising effects in animal models. NU-9 has the ability to improve the structure of axons (the communication threads of neurons) and its effectiveness is greater than many current drugs. - **Gene therapies:** With the identification of ALS-related genes such as SYF2 and PIKFYVE, scientists are developing treatments that can control the activity of these genes and slow the progression of the disease. This approach is designed based on precise changes at the molecular level and promises a bright future for the treatment of Lou Gehring's disease. ### Challenges and future of ALS treatments **Treatment of ALS** is still associated with great challenges, one of the most important of which is the lack of definitive treatment for this disease. Despite scientific advances, existing treatments can only help manage symptoms and slow the progression of the disease, but a method that can completely cure Amyotrophic Lateral Sclerosis has yet to be discovered. This restriction has caused patients and their families to face difficult conditions and the care process needs more complexity. Nevertheless, the future of ALS treatment is promising. Research in the field of stem cells and new therapeutic methods, such as gene therapy, have opened new horizons. The use of stem cells to regenerate or protect motor neurons, as well as the identification of genes associated with ALS, can lead to new pathways. to create for treatment. In addition, new experimental drugs that are currently in the research stages promise positive results in slowing down the progression of the disease. ### Conclusion ALS, or Amyotrophic Lateral Sclerosis, is a huge challenge that gradually destroys a person's motor abilities and makes life a daily struggle. However, despite these challenges, there is still hope. Scientific and therapeutic advances are taking shape and new treatments can help improve patients' quality of life. If you or your loved ones are facing this disease, it is important to be under the supervision of a specialist doctor. Dr. Majid Kihanifar, with years of experience in the field of treatment and counseling of neurological diseases, can provide you with valuable guidance for managing this disease and providing effective treatments. ######: Resources https://www.webmd.com/brain/understanding-als-symptoms?utm\_source=perplexity https://www.hopkinsmedicine.org/health/conditions-and-diseases/amyotrophic-lateral-sclerosis-als?utm\_source=perplexity https://www.mda.org/disease/amyotrophic-lateral-sclerosis/signs-and-symptoms?utm\_source=perplexity https://en.wikipedia.org/wiki/ALS